Uyazi ngokuhlolwa kwe-BRCA? (Ukuhlolwa kwe-BRCA) Indlela yokubona ingozi yomdlavuza kusenesikhathi!

Cishe uke wezwa igama elithi `BRCA` (BRCA) uma ukhuluma ngezinto ezifana nomdlavuza webele, umdlavuza wesibeletho. Mhlawumbe udokotela wakho naye uke walikhuluma. Liyini ngempela leli jini elithi `BRCA`? Yini esingayifunda ngokwenza lokhu `(ukuhlolwa kwe-BRCA)`? Namuhla sizokhuluma ngakho konke lokhu kalula, ngendlela ongayiqonda. Njengokukhuluma nomngane.

Iyini i-BRCA? Kungani ibalulekile kithi?

Kalula nje, i-`BRCA1` kanye ne-`BRCA2` ziyizakhi zofuzo ezimbili ezikhethekile emzimbeni wethu. Zifana nabaqaphi abangaphakathi kwamaseli ethu. Umsebenzi wazo oyinhloko ukulungisa umonakalo ku-`DNA` yethu nokuvimba amaseli ukuthi akhule ngokushesha kakhulu futhi angalawuleki ezindaweni ezifana nebele nama-ovari. Cabanga ngalezi zakhi zofuzo njengohlelo "lokubhuleka" oluncane emzimbeni wethu oluvimba ukwakheka kwamaseli omdlavuza. Yingakho sizibiza ngokuthi `(izakhi zofuzo zokucindezela isimila)`.

Kodwa-ke, ngezinye izikhathi lezi zakhi zofuzo ezibalulekile ze-'BRCA' zingaba nezinguquko ezithile, noma 'ukuguqulwa kwezakhi zofuzo '. Yilapho inkinga iqala khona. Uma lezi zakhi zofuzo zingasebenzi kahle, amaseli engiwashilo cishe azokhula kakhulu. Khona-ke ingozi yokuthola umdlavuza webele, umdlavuza wesibeletho, kodwa nezinye izinhlobo eziningana zomdlavuza iyanda.

Into ebalulekile ukuthi lezi zinguquko zezakhi zofuzo ze-'BRCA' zidluliselwa ezizukulwaneni ngezizukulwane. Lokho kusho ukuthi ungazuza lolu guquko kumama noma kuyihlo. Kufana nefa lomndeni. Senza ukuhlolwa kwezakhi zofuzo okubizwa ngokuthi `(ukuhlolwa kwe-BRCA)` ukuze sithole ukuthi unazo yini lezi zinguquko ze-'BRCA`. Ngenxa yalokhu, kuthathwa isampula encane yegazi kuwe bese ihlolwa.

Ubani okufanele ahlolwe i-BRCA? Ingabe wonke umuntu uyayidinga?

Empeleni, lokhu kuguqulwa kwezakhi zofuzo ze-'BRCA' akuvamile kangako. Isibonelo, cishe u-0.2% wabantu baseMelika unalesi simo. Lelo yiphesenti elincane kakhulu. Ngakho-ke, odokotela abaningi abancomi ukuthi wonke umuntu athole lokhu kuhlolwa kwe-'BRCA'. Kodwa-ke, uma unezici ezithile eziyingozi, udokotela wakho angase akucebise ukuthi uthole lokhu kuhlolwa.

Manje ake sibone ukuthi yiziphi lezo zinto eziyingozi:

• Uma uke waba nomdlavuza webele , ikakhulukazi uma waqala ungakabi neminyaka engu-50 ubudala.
• Uma isihlobo esiseduze emndenini wakho (umama, ubaba, izingane zakini, izingane) sesivele sitholakale sine-'BRCA' mutation.
• Uma ilungu elilodwa noma ngaphezulu lomndeni wakho libe nomdlavuza webele (ikakhulukazi uma amadoda eke aba nomdlavuza webele, lokho nakho kubalulekile).
• Uma unomdlavuza webele kanye nomdlavuza wesibeletho.
• Uma ungoweqembu lamaJuda angama-Ashkenazi (abantu baleli qembu banamathuba amaningi okuba nezinguquko ze-BRCA).
• Uma wena noma othile emndenini wakho enomlando wokuthola izinhlobo eziningi zomdlavuza.
• Uma othile emndenini wakho enesifo esiyingozi sofuzo somdlavuza, isibonelo, i-Cowden syndrome, i-Fanconi anemia, i-Li-Fraumeni syndrome, noma i-Peutz-Jeghers syndrome.

Uma enye noma ngaphezulu yalezi zici isebenza kuwe, kungaba ukuhlakanipha ukukhuluma nodokotela bese ucabanga ngokuhlolwa kwe-BRCA.

Yini esingayifunda ekuhlolweni kwe-BRCA?

Ake sithi unalolu vivinyo. Uma lubonisa ukuthi une-mutation ku-gene ye-`BRCA1` noma ye-`BRCA2`, kusho ukuthi usengozini enkulu kakhulu yokuba nomdlavuza webele kunomuntu ojwayelekile . Ezinye izifundo zibonise ukuthi umuntu ono-mutation we-`BRCA` unamathuba aphindwe kasithupha okuthola umdlavuza webele eneminyaka engu-80 kunomuntu ojwayelekile. Futhi, umdlavuza unamathuba amaningi okukhula usemncane futhi uthinte amabele womabili .

Akukhona lokho kuphela, ukuguquka kwe-BRCA kungandisa ingozi yezinye izinhlobo eziningana zomdlavuza. Okuyinhloko yile:

• Umdlavuza wesibeletho kanye nomdlavuza ohlobene nawo, umdlavuza we-fallopian tube kanye nomdlavuza we-peritoneal.
• Umdlavuza we-prostate - Lokhu kubalulekile kwabesilisa.
• (Umdlavuza we-pancreatic)` (umdlavuza we-pancreatic).
• ` (I-Fanconi anemia)` (I-Fanconi anemia) - Lona umdlavuza ongavamile kakhulu, ovame ukwenzeka ebuntwaneni.

Okubalulekile: Ukuba noguquko lwe-BRCA akusho ukuthi uzoqala ukuba nomdlavuza. Kusho ukuthi usengozini enkulu. Ukwazi lokhu kungakusiza ukuthi uthathe izinyathelo zokunciphisa ingozi yakho.

Kwenzekani ngaphambi kokuhlolwa kwe-BRCA?

Ngaphambi kokuba uhlolwe i-BRCA, kuzodingeka ubone umeluleki wezakhi zofuzo . Lesi yisinyathelo esibaluleke kakhulu. Lo meluleki wezakhi zofuzo uzokuchazela ukuthi izakhi zofuzo ozizuza emndenini wakho zingathinta kanjani ingozi yakho yomdlavuza. Bazokuchazela:

• Kusho ukuthini uma umphumela wokuhlolwa kwe-BRCA ubonisa ukuthi unegciwane noma cha?
• Umphumela wakho wokuhlolwa uthinta kanjani ingozi yakho yomdlavuza?
• Umphumela wakho uthinta kanjani ingozi yamanye amalungu omndeni wakho?

Kungcono ukuthatha isivivinyo kuphela uma usuqonde kahle konke lokhu.

Kwenzekani uma uthola ukuhlolwa kwe-BRCA?

Kulula kakhulu. Ukuhlolwa kwe-BRCA kudinga igazi elincane kuphela kuwe.Kufana nje nalapho uhlolwa igazi noma lapho unikela ngegazi. Udokotela noma umhlengikazi ufaka inalithi encane emthanjeni osengalweni yakho bese ekhipha igazi elincane ebhodleleni elincane.

Ungase uzwe ubuhlungu obuncane lapho inaliti ifakwa futhi isuswa. Kodwa lokhu kuzophela kungakapheli imizuzu emihlanu. Uma kukhona ukuphuma kwegazi okuncane, iplasta encane ingafakwa endaweni. Ngezinye izikhathi lokhu kuhlolwa kungenziwa nangesampula yamathe.

Kwenzekani ngemva kokuhlolwa kwe-BRCA?

Udokotela wakho uzokutshela ukuthi kuzothatha isikhathi esingakanani ukuthola imiphumela yakho. Ngemva kokuba imiphumela yakho ibuyile, kubalulekile ukubona umeluleki wakho wezakhi zofuzo futhi. Bangakuchazela imiphumela futhi bakuchazele izinketho zakho.

Yimiphi imiphumela engaba khona yokuhlolwa kwe-BRCA?

Kungaba nezinhlobo ezintathu zemiphumela.

1. Kuthiwani uma umphumela ubonisa ukuthi ulungile?

Uma une-BRCA mutation, kusho ukuthi unengozi enkulu kakhulu yokuba nomdlavuza. Kodwa, ungakhathazeki. Akusho ukuthi uzothola umdlavuza nakanjani. Ukwazi lokhu kungakusiza ukuthi uthathe izinyathelo ezinhle zokuvimbela umdlavuza, uwuthole kusenesikhathi, noma uwuvimbele. Kungasiza nabanye emndenini wakho ukuba baqonde ingozi yabo.

Khuluma nodokotela wakho kanye nomeluleki wezakhi zofuzo ukuze unqume ukuthi amanye amalungu omndeni wakho kufanele ahlolwe yini. Bazokutshela nangezinyathelo zokuvimbela ongazithatha. Isibonelo:

• Ukuhlolwa umdlavuza njalo: Isibonelo, ukuthola ama-mammogram kaningi.
• Izindlela zokuhlola ezengeziwe: Izinto ezifana ne-MRI yebele.
• Ukunciphisa ukusetshenziswa kwamaphilisi okuvimbela inzalo: Nakuba amanye amaphilisi okuvimbela inzalo anganciphisa ingozi yomdlavuza wesibeletho, angandisa ingozi yomdlavuza webele kwabanye abantu. Kufanele ukhulume nodokotela wakho ngalokhu.
• Ukusetshenziswa kwemithi yokulwa nomdlavuza: Isibonelo, imithi efana ne-tamoxifen.
• Ukuhlinzwa kokuvimbela: Ukususa izicubu zebele ezinempilo ngaphambi kokuba umdlavuza uvele (ukususwa kwesisu okuvimbelwe) noma ukususa ama-ovari nama-tubes e-fallopian (ukususwa kwama-ovari nama-tubes e-fallopian okuvimbelayo). Lezi izinqumo ezinkulu, ngakho-ke kufanele zenziwe ngemva kokucabangisisa nokuxoxisana nodokotela wakho.

2. Kuthiwani uma umphumela ungemuhle?

Umphumela ongemuhle usho ukuthi awunayo i-'BRCA` mutation. Futhi, ngeke udlulisele i-'BRCA` mutation kubantwana bakho. Kodwa-ke, ukuhlolwa kwe-'BRCA` okungemuhle akuqinisekisi ukuthi awusoze waba nomdlavuza. Kusho ukuthi ingozi yakho ifana neyomuntu emphakathini jikelele.

Kodwa-ke, uma ukuhlolwa kwakho kungenayo imiphumela emihle, kodwa ilungu elilodwa noma ngaphezulu lomndeni wakho libe nomdlavuza webele ngaphambi kweminyaka engu-50, isimo siba nzima kakhulu. Lokhu kungasho ukuthi umndeni wakho unesinye ishintsho sezakhi zofuzo esanda ingozi yakho yokuba nomdlavuza. Umeluleki wakho wezakhi zofuzo angakusiza ukuthi uqonde le miphumela futhi unqume ukuthi kudingeka yini ukuhlolwa okwengeziwe.

3. Kuthiwani uma umphumela ungaqiniseki?

Ngezinye izikhathi umphumela ungase ube "ongacaci." Lokhu kusho ukuthi unoshintsho kwenye yezakhi zofuzo zakho ze-BRCA1 noma ze-BRCA2, kodwa lolo shintsho alukakabonwa njengoguquko olwandisa ingozi yakho yomdlavuza webele. Lokhu kubizwa ngokuthi "i-Variant of unknown significance" (VUS) . Uma lokhu kwenzeka, umeluleki wakho wezakhi zofuzo uzochaza imiphumela kuwe futhi akusize unqume ukuthi wena noma abanye emndenini wakho badinga ukuhlolwa okwengeziwe kwezakhi zofuzo.

Yiziphi izinzuzo zokuhlolwa kwe-BRCA? Ingabe zikhona izingozi?

Inzuzo enkulu yalolu vivinyo ukuthi lukutshela ukuthi une-'BRCA' gene mutation. Lokhu kukunikeza ukuqonda okungcono ngengozi yakho yomdlavuza. Futhi, lolu lwazi lungasiza umndeni wakho ukuthi wenze izinqumo mayelana nempilo yawo. Manje kukhona "amaphaneli okuhlola izakhi zofuzo aphelele" ahlola ezinye izakhi zofuzo eziningana ngaphezu kwe-'BRCA1/BRCA2'. Umeluleki wakho wezakhi zofuzo angakuqondisa ukuthi yikuphi ukuhlolwa okufaneleka kakhulu kuwe.

Ngokuphathelene nezingozi, azikho izingozi ezinkulu ngalolu vivinyo. Kumane nje kuyindlela elula kakhulu yokukhipha igazi.

Yini okufanele ngiyibuze udokotela/umhlengikazi wami?

Uma ucabanga ngalolu vivinyo, noma usuvele ulwenzile, kungumqondo omuhle ukubuza udokotela wakho noma umeluleki wezakhi zofuzo le mibuzo:

• Ingabe kuwumqondo omuhle ukuthi noma ubani emndenini wami enze lokhu kuhlolwa kwe-'BRCA'?
• Uma ukuhlolwa kwami ​​​​kunomphumela omuhle, ingabe lokho kusho ukuthi izingane zami nazo zizoba noshintsho lwezakhi zofuzo?
• Imiphumela yami yokuhlolwa izokuthinta kanjani ukuhlolwa komdlavuza webele, kanye nokuhlolwa kwezinye izinhlobo zomdlavuza?
• Uma ukuhlolwa kwami ​​​​kufakazela ukuthi nginayo, yini okufanele ngiyenze ukuze nginciphise ingozi yami yokuthola izinhlobo ezithile zomdlavuza?
• Ingabe uhlobo lokuhlolwa engilwenzile lungakwazi ukuthola ezinye izinguquko zofuzo?

Kubaluleke kakhulu ukuthi wazi izimpendulo zale mibuzo.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Ukuhlolwa kwe-`BRCA` kuwukuhlolwa okubheka izinguquko ezingavamile, noma izinguquko, kuma-gene `BRCA1` kanye ne-`BRCA2`. Uma umphumela ubonisa ukuthi une-positive, kusho ukuthi usengozini enkulu kunomuntu ojwayelekile yokuba nomdlavuza webele, wesibeletho, kanye nezinye izinhlobo ezithile zomdlavuza.

Kodwa, okubaluleke kakhulu, ukwazi ukuthi une-BRCA gene change kukuvumela ukuthi uthathe izinyathelo zokunciphisa ingozi yakho nokuvimbela umdlavuza.Futhi, lolu lwazi lungaba lubaluleke kakhulu emndenini wakho. Ngakho-ke, ungesabi ukukhuluma nodokotela wakho noma umeluleki wezakhi zofuzo ngalokhu, bese uthola ukuqonda okuhle kokuthi uyaludinga yini lolu vivinyo nokuthi, uma kunjalo, ungaqhubeka kanjani nemiphumela.

` I-BRCA, ukuhlolwa kwe-BRCA, umdlavuza webele, umdlavuza wesibeletho, ukuhlolwa kwezakhi zofuzo, ingozi yomdlavuza, ukuguquka kwezakhi zofuzo